ArticleJournal of medical genetics2008
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
Article in Journal of medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 43 citations in OpenAlex.
- Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.World journal of clinical pediatrics · 2026Article
- Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic DisorderJournal of clinical research in pediatric endocrinology · 2026Review
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
- Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.BMC pediatrics · 2022Article
- The Genetic Backdrop of Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2021Review
- Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.Journal of the Endocrine Society · 2021Article
- A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation.Biology of sex differences · 2020Article
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Pituitary · 2017Article
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.Journal of medical genetics · 2016Article
- X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.International journal of endocrinology · 2016Article
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Best practice & research. Clinical endocrinology & metabolism · 2015Review
- Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.Indian journal of pediatrics · 2013Article
- Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.PloS one · 2013Article
- X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.European journal of pediatrics · 2012Article
- Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Molecular and cellular endocrinology · 2011Review
- Evidence of adrenal failure in aging Dax1-deficient mice.Endocrinology · 2011Article
- CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.The Journal of clinical endocrinology and metabolism · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
Adrenal hypoplasia congenita (AHC) can occur due to deletions or mutations in the DAX 1 (NR0B1) gene on the X chromosome (OMIM 300200). This form of AHC is therefore predominantly seen in boys. Deletion of the DAX 1 gene can also be part of a larger contiguous deletion including the centromeric dystrophin and glycerol kinase (GK) genes. We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy. Investigation using the androgen receptor as a marker gene identified skewed inactivation of the X chromosome. In the patient's leucocytes, the paternal X chromosome was completely inactive, but in muscle 20% of the active chromosomes were of paternal origin. Thus skewed X inactivation (deletion on the active maternal X chromosome with an inactive paternal X chromosome) is associated with AHC in a female. Variability in X inactivation between tissues may account for the pronounced salt loss and adrenal insufficiency but mild muscular dystrophy.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.